ClinVar Miner

List of variants studied for carbohydrate metabolism disease by Molecular Therapies Laboratory,Murdoch University

Included ClinVar conditions (161):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000152.5(GAA):c.1082C>G (p.Pro361Arg) rs755253527
NM_000152.5(GAA):c.1128_1129delinsC (p.Trp376fs) rs786204646
NM_000152.5(GAA):c.1548G>A (p.Trp516Ter) rs140826989
NM_000152.5(GAA):c.1910_1918del (p.Leu637_Val639del)
NM_000152.5(GAA):c.2074C>T (p.Gln692Ter)
NM_000152.5(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.5(GAA):c.953T>C (p.Met318Thr) rs121907936

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